Variant · Snv
SCN5A NM_000335.5(SCN5A):c.1141-3C>A
CI-VAR-00008764Explore in graph →NM_000335.5:c.1141-3C>AClinVar 48280 rs41312433
Curated evidence
Evidence by cancer (0 items)
Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.
Data not yet available
No curated evidence item references this variant yet.
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
clinvarProvenance
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-24
- Retrieved
- Sep 29, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260929-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 48280 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Cardiovascular phenotype; Long QT syndrome 3; Dilated cardiomyopathy 1E; Progressive familial heart block, type 1A; Sick sinus syndrome 1; Ventricular fibrillation, paroxysmal familial, type 1; Brugada syndrome 1; Cardiac arrhythmia; Primary dilated cardiomyopathy; Familial pancreatic carcinoma | germline | 21 | Feb 04, 2026 | clinvar |